STBT5:Alveolar soft part sarcoma: Difference between revisions
| [checked revision] | [checked revision] |
No edit summary |
No edit summary Tags: Reverted Visual edit |
||
| Line 54: | Line 54: | ||
|In frame fusion that results in constitutive activation of the ASPSCR1 N-terminal UBX domain interacting with VCP/p97 cofactor to fuse with the helix-loop-helix-leucin zipper (bHLH-LZ) and DNA-binding domains of the 3’TFE3 transcription factor (1)(2)(3)(4). | |In frame fusion that results in constitutive activation of the ASPSCR1 N-terminal UBX domain interacting with VCP/p97 cofactor to fuse with the helix-loop-helix-leucin zipper (bHLH-LZ) and DNA-binding domains of the 3’TFE3 transcription factor (1)(2)(3)(4). | ||
Breakpoints typically involve Type 1: exon 6(5)(6) or exon 4(2) or Type 2: exon5(5)(6) or exon 3(2) of ''TFE3'' (NM_006521) and exon 7 of ''ASPCR1'' (NM_024083). | Breakpoints typically involve Type 1: exon 6(5)(6) or exon 4(2) or Type 2: exon5(5)(6) or exon 3(2) of ''TFE3'' (NM_006521) and exon 7 of ''ASPCR1'' (NM_024083). | ||
|Unbalanced der(17)t(X;17)(p11.23;q25) may also be reported (in older literature or cytogenetic suboptimal morphology) as add(17)t(X;17). | |Unbalanced der(17)t(X;17)(p11.23;q25) may also be reported (in older literature or cytogenetic suboptimal morphology) as add(17)t(X;17).<ref>{{Cite journal|last=Ministerial Meeting on Population of the Non-Aligned Movement (1993: Bali)|date=1994-06|title=Denpasar Declaration on Population and Development|url=https://pubmed.ncbi.nlm.nih.gov/12345678|journal=Integration (Tokyo, Japan)|issue=40|pages=27–29|doi=10.1234/2013/999990|issn=0916-0582|pmid=12345678}}</ref> | ||
|Rare | |Rare | ||
|D, P, T (7) | |D, P, T (7) | ||